TY - JOUR
T1 - Narcolepsy with cataplexy mimicry
T2 - The strange case of two sisters
AU - Pizza, Fabio
AU - Vandi, Stefano
AU - Poli, Francesca
AU - Moghadam, Keivan Kaveh
AU - Franceschini, Christian
AU - Bellucci, Claudia
AU - Cipolli, Carlo
AU - Ingravallo, Francesca
AU - Natalini, Giuliana
AU - Mignot, Emmanuel
AU - Plazzi, Giuseppe
PY - 2013/6/15
Y1 - 2013/6/15
N2 - We report on two sisters, 17 and 12 years of age, with clinical features suggesting narcolepsy with cataplexy (NC): daytime sleepiness, spontaneous and emotionally triggered sudden falls to the ground, and overweight/obesity. MSLT showed borderline sleep latency, with 1 and 0 sleep onset REM periods. HLA typing disclosed the DQB1*0602 allele. Video-polygraphy of the spells ruled out NC diagnosis by demonstrating their easy elicitation by suggestion, with wake EEG, electromyographic persistence of muscle tone, and stable presence of tendon reflexes (i.e., pseudo-cataplexy), together with normal cerebrospinal hypocretin-1 levels. Our cases emphasize the need of a clear depiction of cataplexy pattern at the different ages, the usefulness of examining ictal neurophysiology, and collecting all available disease markers in ambiguous cases.
AB - We report on two sisters, 17 and 12 years of age, with clinical features suggesting narcolepsy with cataplexy (NC): daytime sleepiness, spontaneous and emotionally triggered sudden falls to the ground, and overweight/obesity. MSLT showed borderline sleep latency, with 1 and 0 sleep onset REM periods. HLA typing disclosed the DQB1*0602 allele. Video-polygraphy of the spells ruled out NC diagnosis by demonstrating their easy elicitation by suggestion, with wake EEG, electromyographic persistence of muscle tone, and stable presence of tendon reflexes (i.e., pseudo-cataplexy), together with normal cerebrospinal hypocretin-1 levels. Our cases emphasize the need of a clear depiction of cataplexy pattern at the different ages, the usefulness of examining ictal neurophysiology, and collecting all available disease markers in ambiguous cases.
KW - Childhood
KW - Hypocretin-1
KW - Narcolepsy with cataplexy
KW - Pseudo cataplexy
KW - Video polysomnography
UR - http://www.scopus.com/inward/record.url?scp=84880027268&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84880027268&partnerID=8YFLogxK
U2 - 10.5664/jcsm.2764
DO - 10.5664/jcsm.2764
M3 - Article
C2 - 23772196
AN - SCOPUS:84880027268
VL - 9
SP - 611
EP - 612
JO - Journal of Clinical Sleep Medicine
JF - Journal of Clinical Sleep Medicine
SN - 1550-9389
IS - 6
ER -